Results 71 to 80 of about 133,969 (268)
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Shared etiology of Mendelian and complex disease supports drug discovery
BMC Medical GenomicsBackground Drugs targeting disease causal genes are more likely to succeed for that disease. However, complex disease causal genes are not always clear. In contrast, Mendelian disease causal genes are well-known and druggable.
Panagiotis N. Lalagkas +1 more
doaj +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Journal of the Pakistan Medical AssociationObjective: To assess the causality between other diseases of digestive system and breast cancer. Method: The 2-sample Mendelian randomisation study was conducted in 2023 at the First Affiliated Hospital of Bengbu Medical University, Bengbu, China, using
Yan Wang +3 more
doaj +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng +8 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The research strategy for pharmacodynamics, serum pharmacochemistry, metabolomics, and network pharmacology analysis method in intervention effects of LTT are illustrated. Abstract Background Liujing Toutong tablet (LTT) is a traditional Chinese patent medicine.
Zihan Yu +10 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis
Annals of Neurology, EarlyView.Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding +5 more
wiley +1 more source